The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase

Nat Genet. 1996 Oct;14(2):157-62. doi: 10.1038/ng1096-157.

Abstract

The STM7 gene on chromosome 9 was recently 'excluded' as a candidate for Friedreich's ataxia following the identification of an expanded intronic GAA triplet repeat in the adjacent gene, X25, in patients with the disease. Using RT-PCR, northern and sequence analyses, we now demonstrate that X25 comprises part of the STM7 gene, contributing to at least four splice variants, and report the identification of new coding sequences. Functional analysis of the STM7 recombinant protein corresponding to the reported 2.7-kilobase transcript has demonstrated PtdlnsP 5-kinase activity, supporting the idea that the disease is caused by a defect in the phosphoinositide pathway, possibly affecting vesicular trafficking or synaptic transmission.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alternative Splicing / genetics
  • Amino Acid Sequence
  • Chromosome Mapping
  • Exons / genetics
  • Friedreich Ataxia / enzymology
  • Friedreich Ataxia / genetics*
  • Genes / genetics*
  • Humans
  • Iron-Binding Proteins*
  • Molecular Sequence Data
  • Organ Specificity
  • Phosphotransferases (Alcohol Group Acceptor) / genetics*
  • Phosphotransferases (Alcohol Group Acceptor) / metabolism
  • Placenta
  • Proteins / genetics*
  • RNA, Messenger / analysis
  • RNA, Messenger / genetics
  • Recombinant Fusion Proteins / metabolism
  • Sequence Alignment
  • Sequence Analysis, DNA
  • Sequence Homology, Amino Acid

Substances

  • Iron-Binding Proteins
  • Proteins
  • RNA, Messenger
  • Recombinant Fusion Proteins
  • frataxin
  • Phosphotransferases (Alcohol Group Acceptor)
  • 1-phosphatidylinositol-4-phosphate 5-kinase

Associated data

  • GENBANK/U14957
  • GENBANK/U60871
  • GENBANK/X92493